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ABCA5
HPA
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  • ABCA5
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

ABCA5
Synonyms EST90625
Gene descriptioni

Full gene name according to HGNC.

ATP binding cassette subfamily A member 5
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Human disease related genes
Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 17
Cytoband q24.3
Chromosome location (bp) 69244311 - 69327244
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

7
Ensembl ENSG00000154265 (version 109)
Entrez gene 23461
HGNC HGNC:35
UniProt Q8WWZ7 (UniProt - Evidence at protein level)
neXtProt NX_Q8WWZ7
GeneCards ABCA5
Antibodypedia ABCA5 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Cholesterol efflux transporter in macrophages that is responsible for APOAI/high-density lipoproteins (HDL) formation at the plasma membrane under high cholesterol levels and participates in reverse cholesterol transport 1. May play a role in the processing of autolysosomes (By similarity).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Translocase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Lipid transport, Transport
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
ABCA5-201
ENSP00000376443
ENST00000392676
Q8WWZ7
[Direct mapping] Cholesterol transporter ABCA5
Show all
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of skin
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000139 [Golgi membrane]
GO:0000166 [nucleotide binding]
GO:0005319 [lipid transporter activity]
GO:0005524 [ATP binding]
GO:0005764 [lysosome]
GO:0005765 [lysosomal membrane]
GO:0005768 [endosome]
GO:0005770 [late endosome]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0006869 [lipid transport]
GO:0008203 [cholesterol metabolic process]
GO:0010745 [negative regulation of macrophage derived foam cell differentiation]
GO:0010874 [regulation of cholesterol efflux]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATP hydrolysis activity]
GO:0030301 [cholesterol transport]
GO:0031902 [late endosome membrane]
GO:0033344 [cholesterol efflux]
GO:0034375 [high-density lipoprotein particle remodeling]
GO:0042626 [ATPase-coupled transmembrane transporter activity]
GO:0042632 [cholesterol homeostasis]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043691 [reverse cholesterol transport]
GO:0055085 [transmembrane transport]
GO:0140359 [ABC-type transporter activity]
GO:1903064 [positive regulation of reverse cholesterol transport]
Show all
1642 aa
186.5 kDa
No >9
ABCA5-203
ENSP00000465351
ENST00000586811
K7EJW6
[Direct mapping] Cholesterol transporter ABCA5
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   5TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of skin
   DeepTMHMM predicted membrane proteins
Show all
GO:0000166 [nucleotide binding]
GO:0005524 [ATP binding]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030301 [cholesterol transport]
GO:0055085 [transmembrane transport]
GO:0140359 [ABC-type transporter activity]
Show all
573 aa
65.5 kDa
No 5
ABCA5-207
ENSP00000467672
ENST00000588665
K7EQ50
[Direct mapping] Cholesterol transporter ABCA5
Show all
   DeepTMHMM predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of skin
Show all
38 aa
4.5 kDa
No 0
ABCA5-208
ENSP00000467882
ENST00000588877
Q8WWZ7
[Direct mapping] Cholesterol transporter ABCA5
Show all
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of skin
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000139 [Golgi membrane]
GO:0000166 [nucleotide binding]
GO:0005319 [lipid transporter activity]
GO:0005524 [ATP binding]
GO:0005764 [lysosome]
GO:0005765 [lysosomal membrane]
GO:0005768 [endosome]
GO:0005770 [late endosome]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0006869 [lipid transport]
GO:0008203 [cholesterol metabolic process]
GO:0010745 [negative regulation of macrophage derived foam cell differentiation]
GO:0010874 [regulation of cholesterol efflux]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATP hydrolysis activity]
GO:0030301 [cholesterol transport]
GO:0031902 [late endosome membrane]
GO:0033344 [cholesterol efflux]
GO:0034375 [high-density lipoprotein particle remodeling]
GO:0042626 [ATPase-coupled transmembrane transporter activity]
GO:0042632 [cholesterol homeostasis]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043691 [reverse cholesterol transport]
GO:0055085 [transmembrane transport]
GO:0140359 [ABC-type transporter activity]
GO:1903064 [positive regulation of reverse cholesterol transport]
Show all
1642 aa
186.5 kDa
No >9
ABCA5-210
ENSP00000466931
ENST00000589975
K7ENF9
[Direct mapping] Cholesterol transporter ABCA5
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of skin
   DeepTMHMM predicted membrane proteins
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030301 [cholesterol transport]
GO:0055085 [transmembrane transport]
GO:0140359 [ABC-type transporter activity]
Show all
192 aa
21.4 kDa
No 3
ABCA5-212
ENSP00000466662
ENST00000592568
K7EMV2
[Direct mapping] Cholesterol transporter ABCA5
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of skin
   DeepTMHMM predicted membrane proteins
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030301 [cholesterol transport]
GO:0055085 [transmembrane transport]
GO:0140359 [ABC-type transporter activity]
Show all
127 aa
14.8 kDa
No 1
ABCA5-213
ENSP00000467448
ENST00000593153
K7EPM3
[Direct mapping] Cholesterol transporter ABCA5
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   9TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of skin
   DeepTMHMM predicted membrane proteins
Show all
GO:0000166 [nucleotide binding]
GO:0005524 [ATP binding]
GO:0006869 [lipid transport]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATP hydrolysis activity]
GO:0030301 [cholesterol transport]
GO:0055085 [transmembrane transport]
GO:0140359 [ABC-type transporter activity]
Show all
917 aa
103.6 kDa
No 9

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